不同临床表现的Muir-Torre综合征

Pub Date : 2017-09-01 DOI:10.12816/0047641

Jaffar Y. Al Khuzaie, Mariam AlKooheji, Abdulhadi Algargoush

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引用次数: 0

摘要

癌症相关的遗传性皮肤病，如Muir-Torre综合征是一种与皮肤体征相关的遗传性癌症综合征。Muir-Torre综合征是由错配修复基因突变引起的常染色体显性综合征，被认为是Lynch综合征的一种亚型1,2。其特征是在没有其他诱发因素的情况下，至少存在一种皮脂腺肿瘤(腺瘤、上皮瘤、癌或角棘瘤)和内脏恶性肿瘤3,4。

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Muir-Torre Syndrome with Different Clinical Presentations

Cancer-associated genodermatoses, such as Muir-Torre syndrome are hereditary cancer syndromes associated with distinguishing cutaneous signs. Muir-Torre syndrome is an autosomal dominant syndrome caused by mutations in the mismatch repair genes and is thought to be a subtype of Lynch syndrome1,2. It is characterized by the presence of at least one sebaceous skin tumor (adenoma, epithelioma, carcinoma or keratoacanthoma) and a visceral malignancy, in the absence of other precipitating factors3,4.

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